ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022088
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362559
ClinVar RCV Id:
RCV000309075
RCV000340385
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304708.1:p.Glu94Lys
CA4664053
NM_001317779.2:c.280G>A